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Variant ID: 1-55524313-G-A
NM_174936.3(
PCSK9
):c.1496G>A;(p.R499H)
This variant was identified in 5 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Diabetes and Familial Hypercholesterolemia: Interplay between Lipid and Glucose Metabolism.
Nutrients
González-Lleó, Ana M AM; Sánchez-Hernández, Rosa María RM; Boronat, Mauro M; Wägner, Ana M AM
Publication Date: 2022-04-03
Variant appearance in text: PCSK9: Arg499His
PubMed Link:
35406116
Variant Present in the following documents:
nutrients-14-01503.pdf
View BVdb publication page
A Systematic Approach to Assess the Activity and Classification of PCSK9 Variants.
International Journal Of Molecular Sciences
Uribe, Kepa B KB; Chemello, Kevin K; Larrea-Sebal, Asier A; Benito-Vicente, Asier A; Galicia-Garcia, Unai U; Bourane, Steeve S; Jaafar, Ali K AK; Lambert, Gilles G; Martín, César C
Publication Date: 2021-12-18
Variant appearance in text: PCSK9: Arg499His
PubMed Link:
34948399
Variant Present in the following documents:
ijms-22-13602.pdf
View BVdb publication page
Regulation of PCSK9 Expression and Function: Mechanisms and Therapeutic Implications.
Frontiers In Cardiovascular Medicine
Xia, Xiao-Dan XD; Peng, Zhong-Sheng ZS; Gu, Hong-Mei HM; Wang, Maggie M; Wang, Gui-Qing GQ; Zhang, Da-Wei DW
Publication Date: 2021
Variant appearance in text: PCSK9: R499H
PubMed Link:
34782856
Variant Present in the following documents:
Main text
fcvm-08-764038.pdf
View BVdb publication page
PCSK9: A Multi-Faceted Protein That Is Involved in Cardiovascular Biology.
Biomedicines
Sundararaman, Sai Sahana SS; Döring, Yvonne Y; van der Vorst, Emiel P C EPC
Publication Date: 2021-07-08
Variant appearance in text: PCSK9: Arg499His
PubMed Link:
34356856
Variant Present in the following documents:
Main text
biomedicines-09-00793.pdf
View BVdb publication page
PCSK9 Variants in Familial Hypercholesterolemia: A Comprehensive Synopsis.
Frontiers In Genetics
Guo, Qianyun Q; Feng, Xunxun X; Zhou, Yujie Y
Publication Date: 2020
Variant appearance in text: PCSK9: R499H
PubMed Link:
33173529
Variant Present in the following documents:
Main text
View BVdb publication page